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A diagnosis of Tietz syndrome is suspected in people with severe, bilateral (both ears) sensorineural hearing loss; fair skin; and light-colored hair. Identification of a change (mutation) in the MITF gene also supports this diagnosis.[1][2]

Diagnosing Tietz syndrome can be complicated since there are several different genetic conditions that can cause deafness and hypopigmentation, some of which are also caused by mutations in the MITF gene.[1] It is, therefore, important for people with suspected Tietz syndrome to be evaluated by a healthcare provider who specializes in genetics.

Last updated: 11/19/2014

How can I find a genetics professional in my area?

Genetics clinics are a source of information for people and families with a genetic condition. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

The American Society of Human Genetics is a professional organization of researchers and clinical geneticists. The ASHG maintains a database of its members, some of whom live outside of the United States. Visit the ASHG site if you are interested in obtaining a list of the geneticists in your country, though some may be researchers only and may not offer medical care.